disease has location heart septal defect familial atrioventricular septal defect https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/atrioventricular_septal_defect ICD9:745.60 Atrioventricular Septal Defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. atrioventricular canal defect SCTID:15459006 ICD9:745.69 DOID:0050651 common AV canal AV septal defect GARD:0000802 NCIT:C101029 atrioventricular septal defect common atrioventricular canal ECD NORD:821 MONDO:0020290 AVSD ICD10CM:Q21.2 OMIMPS:606215 Orphanet:98722 ICD9:745.6 AVCD endocardial cushion defect cardiogenetic disease atrioventricular septum